New gene screening methods may greatly improve doctors’ ability to quickly diagnose rare genetic diseases in newborns, researchers say.
The new test includes all of the more than 4,800 genes currently known to be linked with rare diseases. Canadian researchers used the test to try to diagnose 20 newborns who had a variety of medical problems. Half of the infants had neurological symptoms, such as seizures. The babies were all being treated in neonatal intensive care units (NICUs).
